InnateDB Protein
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IDBP-362153.5
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Last Modified
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2014-10-13 [Report errors or provide feedback]
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Gene Symbol
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CDKN1C
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Protein Name
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cyclin-dependent kinase inhibitor 1C (p57, Kip2)
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Synonyms
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BWCR; BWS; KIP2; p57; p57Kip2; WBS;
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Species
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Homo sapiens
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Ensembl Protein
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ENSP00000411552
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InnateDB Gene
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IDBG-23324 (CDKN1C)
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Protein Structure
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Function |
Potent tight-binding inhibitor of several G1 cyclin/CDK complexes (cyclin E-CDK2, cyclin D2-CDK4, and cyclin A-CDK2) and, to lesser extent, of the mitotic cyclin B-CDC2. Negative regulator of cell proliferation. May play a role in maintenance of the non- proliferative state throughout life.
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Subcellular Localization |
Nucleus {ECO:0000250}.
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Disease Associations |
Beckwith-Wiedemann syndrome (BWS) [MIM:130650]: A disorder characterized by anterior abdominal wall defects including exomphalos (omphalocele), pre- and postnatal overgrowth, and macroglossia. Additional less frequent complications include specific developmental defects and a predisposition to embryonal tumors. {ECO:0000269PubMed:10424811}. Note=The disease is caused by mutations affecting the gene represented in this entry.Intrauterine growth retardation, metaphyseal dysplasia, adrenal hypoplasia congenita, and genital anomalies (IMAGE) [MIM:614732]: A rare condition characterized by intrauterine growth restriction, metaphyseal dysplasia, congenital adrenal hypoplasia, and genital anomalies. Patients with this condition may present shortly after birth with severe adrenal insufficiency, which can be life-threatening if not recognized early and commenced on steroid replacement therapy. Other reported features in this condition include, hypercalciuria and/or hypercalcemia, craniosynostosis, cleft palate, and scoliosis. {ECO:0000269PubMed:22634751}. Note=The disease is caused by mutations affecting the gene represented in this entry.Note=Defects in CDKN1C are involved in tumor formation.
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Tissue Specificity |
Expressed in the heart, brain, lung, skeletal muscle, kidney, pancreas and testis. Expressed in the eye. High levels are seen in the placenta while low levels are seen in the liver. {ECO:0000269PubMed:22634751}.
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Comments |
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Number of Interactions
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This gene and/or its encoded proteins are associated with 26 experimentally validated interaction(s) in this database.
They are also associated with 1 interaction(s) predicted by orthology.
Experimentally validated |
Total |
26
[view]
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Protein-Protein |
23
[view]
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Protein-DNA |
3
[view]
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Protein-RNA |
0
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DNA-DNA |
0
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RNA-RNA |
0
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DNA-RNA |
0
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Predicted by orthology |
Total |
1 [view]
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Molecular Function |
Accession |
GO Term |
GO:0004861
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cyclin-dependent protein serine/threonine kinase inhibitor activity
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GO:0005515
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protein binding
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Biological Process |
GO:0000079
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regulation of cyclin-dependent protein serine/threonine kinase activity
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GO:0000080
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mitotic G1 phase
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GO:0007050
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cell cycle arrest
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GO:0008285
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negative regulation of cell proliferation
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GO:0030511
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positive regulation of transforming growth factor beta receptor signaling pathway
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GO:0033673
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negative regulation of kinase activity
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GO:0042326
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negative regulation of phosphorylation
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GO:0045892
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negative regulation of transcription, DNA-templated
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GO:0045893
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positive regulation of transcription, DNA-templated
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GO:0050680
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negative regulation of epithelial cell proliferation
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GO:0071901
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negative regulation of protein serine/threonine kinase activity
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Cellular Component |
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PDB ID |
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InterPro |
IPR003175
Cyclin-dependent kinase inhibitor
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PFAM |
PF02234
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PRINTS |
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PIRSF |
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SMART |
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TIGRFAMs |
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Modification |
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SwissProt |
P49918
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PhosphoSite |
PhosphoSite-P49918
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TrEMBL |
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UniProt Splice Variant |
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Entrez Gene |
1028
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UniGene |
Hs.727251
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RefSeq |
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HUGO |
HGNC:1786
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OMIM |
600856
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CCDS |
CCDS7738
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HPRD |
02913
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IMGT |
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EMBL |
BC067842
D64137
U22398
U48869
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GenPept |
AAA85095
AAB05896
AAH67842
BAA11014
BAA11015
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